Global Variome shared LOVD

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Phenotype #0000021987 Individual ID 00025917 Associated disease CHIME;GPIBD5 Phenotype details Phenotype included a migratory ichthyosiform dermatosis, multiple skin infections and infestations, bilateral retinal coloboma, developmental delay, seizures, infantile macrosomia, facial anomalies, a duplicated renal collecting system, and conductive hearing loss. Histologic examination of the skin findings of an epidermal nevus with deep rete pegs, hyperkeratosis, and a markedly increased granular layer. The patient developped acute lymphoblastic leukemia at age 4 1/2 years. Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Philippe Campeau Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Philippe Campeau Date created 2014-12-04 22:41:34 +01:00 (CET) Date last edited N/A

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